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Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.

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New KCNC1 gene variants cause various neurodevelopmental disorders, including infantile epileptic encephalopathy and developmental encephalopathy without seizures. These variants lead to loss of function in the Kv3.1 channel, broadening the known KCNC1-related phenotype spectrum.

Keywords:
EncephalopathyKCNC1epilepsy

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Area of Science:

  • Neurogenetics
  • Channelopathies
  • Epilepsy Genetics

Background:

  • KCNC1 gene encodes the Kv3.1 potassium channel, crucial for neuronal excitability.
  • Mutations in KCNC1 have been linked to Progressive Myoclonus Epilepsy (PME).
  • The full spectrum of KCNC1-associated neurodevelopmental disorders remains incompletely understood.

Purpose of the Study:

  • To investigate clinical phenotypes associated with KCNC1 variants beyond the known PME-causing mutation.
  • To determine the functional electrophysiological impact of identified KCNC1 variants.
  • To explore correlations between genotype, phenotype, and physiological function.

Main Methods:

  • Analysis of clinical data from ten patients with putative pathogenic KCNC1 variants.
  • Identification of variants using whole-exome sequencing or gene panel testing.
  • Functional assessment of KCNC1 variants using Xenopus laevis oocyte expression and voltage-clamp electrophysiology.

Main Results:

  • Six patients presented with Developmental and Epileptic Encephalopathy (DEE) linked to a recurrent de novo KCNC1 variant (p.Ala421Val).
  • Functional studies revealed loss of function for p.Ala421Val and other tested variants, characterized by reduced whole-cell currents.
  • Three patients exhibited Developmental Encephalopathy without seizures, associated with different KCNC1 loss-of-function variants.

Conclusions:

  • This study expands the phenotypic spectrum of KCNC1-related disorders to include infantile-onset DEE and non-epileptic developmental encephalopathy.
  • Loss of Kv3.1 channel function is a consistent mechanism underlying these diverse neurodevelopmental phenotypes.
  • Further research is needed to elucidate definitive electrophysiological distinctions between these KCNC1-associated phenotypes.